Canonical Allele Identifier: CA012865
Gene: MSH6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 89386
ClinVar RCV Id: RCV000074854
dbSNP Id: rs267608096

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803686G>A , CM000664.2:g.47803686G>A GRCh38
NC_000002.11:g.48030825G>A , CM000664.1:g.48030825G>A GRCh37
NC_000002.10:g.47884329G>A NCBI36
NG_007111.1:g.25540G>A , LRG_219:g.25540G>A

Transcript Alleles

HGVS Amino-acid change
NM_000179.2:c.3438+1G>A , LRG_219t1:c.3438+1G>A NP_000170.1:p.=
NM_001281492.1:c.3048+1G>A VV NP_001268421.1:p.=
NM_001281493.1:c.2532+1G>A VV NP_001268422.1:p.=
NM_001281494.1:c.2532+1G>A VV NP_001268423.1:p.=
XM_005264271.1:c.3141+1G>A XP_005264328.1:p.=
XM_011532798.1:c.3255+1G>A XP_011531100.1:p.=
XM_011532799.1:c.3141+1G>A XP_011531101.1:p.=
XM_011532800.1:c.3141+1G>A XP_011531102.1:p.=
XM_024452819.1:c.3438+1G>A XP_024308587.1:p.=
XM_024452820.1:c.3255+1G>A XP_024308588.1:p.=
XM_024452821.1:c.3141+1G>A XP_024308589.1:p.=
XM_024452822.1:c.2532+1G>A XP_024308590.1:p.=
ENST00000234420.9:c.3438+1G>A ENSP00000234420.4:p.=
ENST00000405808.5:c.169+4509C>T ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+4308C>T ENSP00000402692.1:p.=
ENST00000445503.5:c.*2785+1G>A ENSP00000405294.1:p.=
ENST00000538136.1:c.2532+1G>A ENSP00000438580.1:p.=
ENST00000540021.5:c.3048+1G>A ENSP00000446475.1:p.=
ENST00000614496.4:c.2532+1G>A ENSP00000477844.1:p.=
ENST00000622629.4:c.334+8G>A ENSP00000482078.1:p.=